Genetic variant
rs147110934
rs147110934 is a single-letter difference in human DNA, on chromosome 19. Carrying it does not, on its own, mean you have or will develop any condition.
What is this?
Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs147110934 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Rare and low-frequency coding variants alter human adult height.
From SNPedia
Why might it matter?
ClinVar holds no clinical classification for this variant. That is the usual case: most catalogued variants have no known effect on health.
Do I have this variant?
If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs147110934, if your test read this position.
Connect this with your blood results
A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.
Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.
What should I do next?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.
Technical details
- dbSNP ID
- rs147110934
- Position
- chr19:55482069
Genome-wide association studies (19)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Height | — | — | 1E-64 | PubMed |
| Standing height (UKB data field 50) | T | β 0.054 | 4E-57 | PubMed |
| Height | — | β 0.086 | 3E-53 | PubMed |
| Height (baseline) | G | β 0.062 | 3E-50 | PubMed |
| Height | T | β 0.072 | 2E-40 | PubMed |
| Physical function (baseline) | G | β 0.04 | 2E-32 | PubMed |
| Appendicular lean mass | T | β 0.072 | 9E-32 | PubMed |
| Body size (confirmatory factor analysis Factor 21) | — | — | 2E-25 | PubMed |
| Appendicular lean mass | T | β 0.09 | 3E-22 | PubMed |
| FVC | — | — | 7E-19 | PubMed |
| FEV1 | — | — | 1E-15 | PubMed |
| Whole body water mass (UKB data field 23102) | T | β 0.027 | 9E-14 | PubMed |
| Forced expiratory volume (baseline) | G | β 0.041 | 1E-13 | PubMed |
| Appendicular lean mass | T | β 0.06 | 2E-13 | PubMed |
| Sex hormone-binding globulin levels and heel estimated bone mineral density | — | — | 8E-13 | PubMed |
| Sex hormone-binding globulin levels adjusted for BMI and heel estimated bone mineral density | — | — | 9E-12 | PubMed |
| Fat-free mass | — | OR 0.69 | 2E-9 | PubMed |
| Birth weight | G | β 0.052 | 2E-9 | PubMed |
| Volume of heart | T | OR 0.13 | 4E-8 | PubMed |
Sources
- dbSNP: rs147110934 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies